ClinVar for Gene (Select 29888) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363381	NM_024301.5(FKRP):c.-253+5G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3323441	NM_013403.3(STRN4):c.1835C>T (p.Ser612Phe)	STRN4 (S612F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323440	NM_013403.3(STRN4):c.1207G>T (p.Ala403Ser)	STRN4 (A410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323439	NM_013403.3(STRN4):c.1796C>A (p.Thr599Asn)	STRN4 (T599N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323438	NM_013403.3(STRN4):c.1573A>G (p.Met525Val)	STRN4 (M525V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323437	NM_013403.3(STRN4):c.524G>A (p.Arg175Gln)	STRN4 (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323436	NM_013403.3(STRN4):c.1118C>T (p.Pro373Leu)	STRN4 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323435	NM_013403.3(STRN4):c.1898G>A (p.Gly633Asp)	STRN4 (G640D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323434	NM_013403.3(STRN4):c.250G>A (p.Ala84Thr)	FKRP, LOC130064775 +1 more (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171681	NM_013403.3(STRN4):c.857A>G (p.Gln286Arg)	LOC126862917, STRN4 (Q286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171680	NM_013403.3(STRN4):c.778T>C (p.Ser260Pro)	LOC126862917, STRN4 (S260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171678	NM_013403.3(STRN4):c.595G>A (p.Val199Ile)	STRN4 (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171677	NM_013403.3(STRN4):c.433G>C (p.Glu145Gln)	STRN4 (E145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171676	NM_013403.3(STRN4):c.429G>C (p.Gln143His)	STRN4 (Q143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171675	NM_013403.3(STRN4):c.1895G>A (p.Arg632Gln)	STRN4 (R632Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171673	NM_013403.3(STRN4):c.1894C>T (p.Arg632Trp)	STRN4 (R639W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171672	NM_013403.3(STRN4):c.1705C>T (p.Arg569Cys)	STRN4 (R569C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171671	NM_013403.3(STRN4):c.1672C>T (p.Arg558Cys)	STRN4 (R558C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171670	NM_013403.3(STRN4):c.1603G>C (p.Val535Leu)	STRN4 (V535L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171669	NM_013403.3(STRN4):c.1574T>C (p.Met525Thr)	STRN4 (M532T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171667	NM_013403.3(STRN4):c.1486G>A (p.Ala496Thr)	STRN4 (A503T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171666	NM_013403.3(STRN4):c.1174A>G (p.Ile392Val)	STRN4 (I399V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171664	NM_013403.3(STRN4):c.113C>A (p.Ala38Asp)	FKRP, STRN4 (A38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171663	NM_013403.3(STRN4):c.1045C>T (p.Arg349Cys)	STRN4 (R349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171662	NM_013403.3(STRN4):c.103T>C (p.Ser35Pro)	FKRP, STRN4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171661	NM_013403.3(STRN4):c.1007G>A (p.Arg336Gln)	STRN4 (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062385	GRCh37/hg19 19q13.32(chr19:47185918-47435756)x3	AP2S1, ARHGAP35 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3029813	NM_024301.5(FKRP):c.-270C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	FKRP-related disorder	GLikely benign
Select item 2619954	NM_013403.3(STRN4):c.1473G>A (p.Arg491=)	STRN4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2606334	NM_013403.3(STRN4):c.742G>A (p.Ala248Thr)	LOC126862917, STRN4 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572362	NM_013403.3(STRN4):c.737+1G>C	STRN4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2557059	NM_013403.3(STRN4):c.697G>A (p.Glu233Lys)	STRN4 (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519717	NM_013403.3(STRN4):c.613C>G (p.Arg205Gly)	STRN4 (R205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516744	NM_013403.3(STRN4):c.482C>T (p.Ser161Leu)	STRN4 (S161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2504355	NM_024301.5(FKRP):c.-253+331C>A	FKRP, STRN4 (E4*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2489170	NM_013403.3(STRN4):c.1171A>G (p.Thr391Ala)	STRN4 (T391A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483254	NM_013403.3(STRN4):c.1495A>G (p.Met499Val)	STRN4 (M506V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474172	NM_013403.3(STRN4):c.2233G>A (p.Ala745Thr)	STRN4 (A745T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461875	NM_013403.3(STRN4):c.1234G>A (p.Asp412Asn)	STRN4 (D419N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455892	NM_013403.3(STRN4):c.2014G>T (p.Val672Leu)	STRN4 (V672L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454571	NM_013403.3(STRN4):c.904G>A (p.Glu302Lys)	STRN4 (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410815	NM_013403.3(STRN4):c.651A>T (p.Glu217Asp)	STRN4 (E217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401312	NM_013403.3(STRN4):c.1003C>T (p.Arg335Trp)	STRN4 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378692	NM_013403.3(STRN4):c.1046G>A (p.Arg349His)	STRN4 (R349H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372697	NM_013403.3(STRN4):c.2074G>A (p.Ala692Thr)	STRN4 (A692T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369891	NM_013403.3(STRN4):c.2140G>A (p.Val714Met)	STRN4 (V721M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356031	NM_013403.3(STRN4):c.1804G>A (p.Glu602Lys)	STRN4 (E609K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336821	NM_013403.3(STRN4):c.1352C>T (p.Ser451Leu)	STRN4 (S451L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333094	NM_013403.3(STRN4):c.1436T>A (p.Leu479Gln)	STRN4 (L479Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322603	NM_013403.3(STRN4):c.1926A>C (p.Gln642His)	STRN4 (Q642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312721	NM_013403.3(STRN4):c.721G>A (p.Glu241Lys)	STRN4 (E241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301639	NM_013403.3(STRN4):c.371C>T (p.Ala124Val)	STRN4 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291138	NM_013403.3(STRN4):c.251C>T (p.Ala84Val)	FKRP, LOC130064775 +1 more (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288846	NM_013403.3(STRN4):c.272C>T (p.Ala91Val)	FKRP, LOC130064775 +1 more (A91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280824	NM_013403.3(STRN4):c.2059G>A (p.Val687Met)	STRN4 (V694M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275292	NM_013403.3(STRN4):c.1033G>A (p.Glu345Lys)	STRN4 (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264118	NM_013403.3(STRN4):c.1292A>G (p.Lys431Arg)	STRN4 (K438R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263620	NM_013403.3(STRN4):c.1566C>G (p.Asp522Glu)	STRN4 (D522E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256842	NM_013403.3(STRN4):c.157A>C (p.Ser53Arg)	FKRP, STRN4 (S53R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255832	NM_013403.3(STRN4):c.182A>C (p.Glu61Ala)	FKRP, STRN4 (E61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238402	NM_013403.3(STRN4):c.52C>T (p.Arg18Cys)	FKRP, STRN4 (R18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232554	NM_013403.3(STRN4):c.1280C>T (p.Thr427Met)	STRN4 (T434M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225421	NM_013403.3(STRN4):c.1859T>C (p.Met620Thr)	STRN4 (M620T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220330	NM_013403.3(STRN4):c.781G>C (p.Val261Leu)	LOC126862917, STRN4 (V261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220173	NM_013403.3(STRN4):c.1352C>G (p.Ser451Trp)	STRN4 (S451W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214236	NM_013403.3(STRN4):c.467A>G (p.Asn156Ser)	STRN4 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205400	NM_013403.3(STRN4):c.56C>A (p.Pro19Gln)	FKRP, STRN4 (P19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1411336	NC_000019.9:g.(?_47104692)_(47260195_?)dup	CALM3, DACT3 +5 more	Duplication	Long QT syndrome 1	GUncertain significance
Select item 1327792	NC_000019.10:g.46746008C>G	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270326	NC_000019.10:g.46746039G>C	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190029	NC_000019.10:g.46746040C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181076	NC_000019.10:g.46746021G>A	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1028981	NM_024301.5(FKRP):c.-253+4A>G	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 830903	NC_000019.10:g.(?_46605817)_(46756948_?)dup	CALM3, DACT3 +5 more	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 785629	NM_013403.3(STRN4):c.474C>T (p.Pro158=)	STRN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782346	NM_013403.3(STRN4):c.1884G>A (p.Thr628=)	STRN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781468	NM_013403.3(STRN4):c.30C>A (p.Val10=)	FKRP, STRN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 769977	NM_013403.3(STRN4):c.1858A>G (p.Met620Val)	STRN4 (M620V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 522865	NM_024301.5(FKRP):c.-272G>A	STRN4, FKRP +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518044	NM_024301.5(FKRP):c.-272GGC[3]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 516899	NM_024301.5(FKRP):c.-253+5GGCCG[5]	FKRP, LOC130064775 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 509026	NM_024301.5(FKRP):c.-253+9G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 420683	NM_024301.5(FKRP):c.-272GGC[8]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 390494	NM_024301.5(FKRP):c.-253+14G>A	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2